FBXO7, F-box protein 7, 25793

N. diseases: 76; N. variants: 51
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
Parkinsonism with favorable response to dopaminergic medication
phenotype Nervous System Diseases Finding 21 2 0.100 None 0
CUI: C1846865
Disease: Substantia nigra gliosis
Substantia nigra gliosis
phenotype Pathological Conditions, Signs and Symptoms Finding 14 0.100 None 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C3554568
Disease: Young adult onset
Young adult onset
phenotype Finding 8 0.100 None 0
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None < 0.001 1 2019 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 0.955 22 5 2009 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.200 None 1.000 18 3 2009 2019
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.770 None 1.000 11 5 2008 2019
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.040 None 1.000 4 2013 2018
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 20 17 0.030 None 1.000 3 2008 2019
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
disease Nervous System Diseases Disease or Syndrome 51 32 0.030 None 1.000 3 2016 2018
CUI: C1456687
Disease: Polio and Post-Polio Syndrome
Polio and Post-Polio Syndrome
disease Infections Disease or Syndrome 16 1 0.030 None 1.000 3 2008 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 3 5 2012 2018
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 3 4 2012 2019
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile
disease Nervous System Diseases Disease or Syndrome 40 2 0.310 strong 1.000 2 2009 2014
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.410 strong 1.000 2 2009 2010
CUI: C0263548
Disease: Pyramidal disease
Pyramidal disease
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Mental Disorders; Wounds and Injuries Disease or Syndrome 2 0.020 None 1.000 2 2013 2013
Neurodegeneration with brain iron accumulation (NBIA)
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.020 None 1.000 2 1 2010 2015
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 111 7 0.020 None 1.000 2 2017 2017
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 41 2012 2012
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2015 2015
Spastic paraplegia 11, autosomal recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 134 0.010 None 1.000 1 2010 2010
CUI: C1868596
Disease: Atypical Parkinson Disease
Atypical Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019